title: The search for genetic clues in chronic lymphocytic leukemia.
abstract: Research on the genetic basis of CLL is progressing at a rapid pace. The development of new techniques such as FISH, comparative genomic hybridisation (CGH) and a whole range of molecular methods is being applied to identify abnormalities in this relatively common B-cell leukaemia. The abnormalities may be of a different nature. There are some which are clearly associated with particular forms of the disease and usually with aggressive characteristics. The best examples are deletions at 11q23 seen in younger patients with generalised lymphadenopathy and inferior prognosis; trisomy 12, commonly associated with an increased proportion of prolymphocytes (CLL/PL) and more progressive disease; 17p abnormalities, chiefly mutations and deletions of p53, although rare, seem to be associated with transformation such as Richter syndrome, with CLL/PL and poor response to therapy. Abnormalities at 13q, though not correlated with particular clinical syndromes, are the subject of intense interest due to the possibility that one or more tumour suppressor genes relevant to the pathogenesis of CLL may be identified. Two areas in which work is being focused are 13q14 and 13q12. Finally, the incidence of familial cases of CLL, which has been known for a number of years, will lead to an international effort to collect familial cases, which ultimately will allow a genetic linkage study to discover a CLL "susceptibility gene". The presentations at the IWCLL were up-to-date, stimulating and pointed the way forward to further rapid progress in this exciting field.
authors.affiliation: Academic Department of Haematology & Cytogenetics, Royal Marsden NHS Trust, London, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Catovsky
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D002881:Chromosomes, Human, Pair 12; D002882:Chromosomes, Human, Pair 13; D002886:Chromosomes, Human, Pair 17; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D014314:Trisomy